Details of Disease

General Information of Disease (ID: DISEECSG)

Disease Name Hypotrichosis 13
Synonyms HYPT13; hypt13; hypotrichosis 13; hypotrichosis type 13; hypotrichosis with woolly hair; hypotrichosis caused by mutation in KRT71; KRT71 hypotrichosis; hypotrichosis with wooly hair
Definition Any hypotrichosis in which the cause of the disease is a mutation in the KRT71 gene.
Disease Hierarchy
DISSW933: Hypotrichosis
DISTWYN7: Isolated familial wooly hair disorder
DISEECSG: Hypotrichosis 13
Disease Identifiers
MONDO ID
MONDO_0014390
UMLS CUI
C4014616
OMIM ID
615896
MedGen ID
863053

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KRT71 OTI91X9Z Limited Autosomal dominant [1]
LIPH OTRGYLKL Limited Genetic Variation [2]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2 A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair.Sci Rep. 2012;2:730. doi: 10.1038/srep00730. Epub 2012 Oct 12.